TY - JOUR
T1 - Nuclear protein in testis midline carcinoma with unusual elevation of α-fetoprotein and synaptophysin positivity
T2 - A case report and review of the literature
AU - Raza, Anwar
AU - Cao, Huynh
AU - Conrad, Rachel
AU - Cobb, Camilla
AU - Castelino-Prabhu, Shobha
AU - Mirshahidi, Saied
AU - Shiraz, Parveen
AU - Mirshahidi, Hamid R.
N1 - Publisher Copyright:
© 2015 Informa UK, Ltd.
PY - 2015/10/3
Y1 - 2015/10/3
N2 - Nuclear protein in testis (NUT) midline carcinoma (NMC) is a rare cancer that displays a characteristic chromosomal rearrangement of BRD4-NUT t(15;19)(q14;q13.1). Despite occasional dramatic responses to radiation and chemotherapy, NMC usually behaves aggressively and becomes rapidly progressive. Immunohistochemical staining is usually limited to p63, cytokeratins, and monoclonal NUT antibody. Here, we report a NMC case in a 36-year-old man with elevated serum α-fetoprotein (AFP), synaptophysin positivity, and a 9.0 cm mass involving the right lung and mediastinum. Tumor cells demonstrated BRD4-NUT fusion on fluorescence in situ hybridization. To our knowledge, only one other case with elevated serum AFP and one case with synaptophysin positivity have been described. This diagnosis will undoubtedly grow more common as informed physicians become more aware of the disease and begin testing for NMC. Further study is needed to establish the prevalence of NMC and to elucidate the significance of elevated AFP and synaptophysin positivity in this rare tumor.
AB - Nuclear protein in testis (NUT) midline carcinoma (NMC) is a rare cancer that displays a characteristic chromosomal rearrangement of BRD4-NUT t(15;19)(q14;q13.1). Despite occasional dramatic responses to radiation and chemotherapy, NMC usually behaves aggressively and becomes rapidly progressive. Immunohistochemical staining is usually limited to p63, cytokeratins, and monoclonal NUT antibody. Here, we report a NMC case in a 36-year-old man with elevated serum α-fetoprotein (AFP), synaptophysin positivity, and a 9.0 cm mass involving the right lung and mediastinum. Tumor cells demonstrated BRD4-NUT fusion on fluorescence in situ hybridization. To our knowledge, only one other case with elevated serum AFP and one case with synaptophysin positivity have been described. This diagnosis will undoubtedly grow more common as informed physicians become more aware of the disease and begin testing for NMC. Further study is needed to establish the prevalence of NMC and to elucidate the significance of elevated AFP and synaptophysin positivity in this rare tumor.
KW - BRD4-NUT
KW - NUT midline carcinoma
KW - synaptophysin
KW - α-fetoprotein
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U2 - 10.1586/14737140.2015.1082909
DO - 10.1586/14737140.2015.1082909
M3 - Review article
C2 - 26402248
SN - 1473-7140
VL - 15
SP - 1199
EP - 1213
JO - Expert Review of Anticancer Therapy
JF - Expert Review of Anticancer Therapy
IS - 10
ER -